Description: Homo sapiens actinin, alpha 3 (ACTN3), transcript variant 2, mRNA. RefSeq Summary (NM_001258371): This gene encodes a member of the alpha-actin binding protein gene family. The encoded protein is primarily expressed in skeletal muscle and functions as a structural component of sarcomeric Z line. This protein is involved in crosslinking actin containing thin filaments. An allelic polymorphism in this gene results in both coding and non-coding variants; the reference genome represents the coding allele. The non-functional allele of this gene is associated with elite athlete status. [provided by RefSeq, Feb 2014]. Transcript (Including UTRs) Position: hg19 chr11:66,313,866-66,330,799 Size: 16,934 Total Exon Count: 22 Strand: + Coding Region Position: hg19 chr11:66,313,982-66,330,664 Size: 16,683 Coding Exon Count: 22
aerobic exercise capacity Lucia, A. et al. 2007, The 577X allele of the ACTN3 gene is associated with improved exercise capacity in women with McArdle's disease, Neuromuscul Disord 2007.
[PubMed 17560787]
endurance, elite Yang, N. et al. 2003, ACTN3 genotype is associated with human elite athletic performance., American journal of human genetics. 2003 Sep;73(3):627-31.
[PubMed 12879365]
The differential effects in sprint and endurance athletes suggests that the R577X polymorphism may have been maintained in the human population by balancing natural selection.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on B4DZQ2
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
